{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:15:28Z","timestamp":1783577728894,"version":"3.55.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) and Multiple Sclerosis (MS) are distinct neurological conditions with different underlying pathogenetic mechanisms. Their co-occurrence is exceedingly rare, with approximately 40 cases reported in the literature. Due to overlapping clinical and neuroimaging features, diagnosis is often challenging. We describe two cases of NF1-MS comorbidity highlighting the importance of a careful neuro-ophthalmological and neuroradiological evaluation for this rare association.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient 1<\/jats:title>\n                    <jats:p>A 33-year-old female presented with acute bilateral visual loss and bladder dysfunction. Brain and spinal cord Magnetic Resonance Imaging (MRI) showed multiple demyelinating lesions and a right globus pallidus Focal Area of Signal intensity (FASI); CSF exam showed oligoclonal bands, supporting a diagnosis of MS. Moreover, the identification of caf\u00e9-au-lait macules, optic pathway glioma (OPG) and Lisch nodules led to the discovery of a pathogenic NF1 variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient 2<\/jats:title>\n                    <jats:p>A 49-year-old male with left eye visual blurring, right optic nerve glioma, caf\u00e9-au-lait macules and subcutaneous neurofibromas was diagnosed with NF1. Initial brain and spine MRI identified a cervical neurofibroma and a dorsal intramedullary lesion, originally interpreted as a FASI. The patient developed new-onset genitourinary and sensory deficits. Follow-up brain MRI revealed new periventricular and subcortical demyelinating lesions, including a contrast enhancing one. Given its specific localization within the dorsolateral columns, the spinal lesion was redefined as a demyelinating plaque, supporting the diagnosis of definite MS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our cases highlight two distinct diagnostic trajectories of NF1 and MS coexistence: MS as the presenting condition (Patient 1) and MS diagnosed during NF1 surveillance (Patient 2). The diagnostic challenge involves differentiating MS-related optic neuritis from OPG-associated visual symptoms and demyelinating plaques from FASIs. Furthermore, the management of MS co-occurring with NF1 is further complicated by the absence of established therapeutic guidelines. These cases highlight the importance of rigorous neuroimaging and neuro-ophthalmological evaluation in NF1 patients presenting new-onset symptoms or atypical MRI evolution.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2026.1870007","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T05:34:28Z","timestamp":1783575268000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Multiple sclerosis and Neurofibromatosis type 1: a rare comorbidity"],"prefix":"10.3389","volume":"17","author":[{"given":"Angela","family":"Musci","sequence":"first","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Bonan","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Manzoni","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Carbonelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Amore","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Ventruto","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Lugaresi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"La Morgia","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna","place":["Bologna, Italy"]},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna","place":["Bologna, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"Revised diagnostic criteria 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